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1. Ozone profiles obtained by DIAL technique at Maïdo Observatory in La Reunion Island: comparisons with ECC ozone-sondes, ground-based FTIR spectrometer and microwave radiometer measurements

Author

Portafaix T., Godin-Beekmann S., Payen G., de Mazière M., Langerock B., Fernandez S., Posny F., Cammas J.P., Metzger J. M., Bencherif H., Vigouroux C., and Marquestaut N.

Subjects
Physics, QC1-999
Abstract

A DIAL lidar system performing stratospheric ozone profile measurements from 15 to 45 km is installed at Reunion Island (southwest of Indian Ocean). The purpose of this communication is to present this DIAL system mounted now at the new Maïdo Observatory since February 2013, and the ozone profile retrieval. The first stratospheric ozone profiles obtained during 2013 and 2014 will be presented and discussed. Inter-comparison and differences observed with other high vertical resolution ozone profiles performed by ECC ozonesonde will be shown. Finally, comparisons with low vertical resolution ozone profiles retrieved from microwave and FTIR remote sensing measurements performed at Maïdo will be carried out, making appropriate use of the associated averaging kernels

Published
2016
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2. Immunovirological status in people with perinatal and adult-acquired HIV-1 infection: a multi-cohort analysis from France

Author

Aumaitre, H., Froguel, E., Caby, F., Dellion, S., Gerard, L., Lucht, F., Chirouze, C., Dupon, M., Schmit, Jl, Goujard, C., Allegre, T., Cazenave, B., Hittinger, G., De Truchis, P., Cailhol, J., Duvivier, C., Canestri, A., Bouchaud, O., Karmochkine, M., Salmon-Ceron, D., Zucman, D., Mortier, E., Tubiana, R., Girard, P.M., Pintado, C., Cabie, A., Rabier, V., Morlat, P., Neau, D., Genet, C., Makhloufi, D., Ronot, S Bregigeon, Ghosn, J., Reliquet, V., Perré, P., Pellegrin, Jl, Arvieux, C., Cheneau, C., Bernard, L., Delobel, P., Verdon, R., Jacomet, C., Piroth, L., Ajana, F., Bevilacqua, S., Debab, Y., Lecapitaine, A.L., Cotte, L., Mokhtari, S., Mercie, P., Poubeau, P., Garrait, V., Khuong, Ma, Beck-Wirth, G., Blum, L., Blanche, S., Boccara, F., Prazuck, T., Barbuat, C., Viard, J.P., Stegmann-Planchard, S., Martha, B., Treluyer, J.M., Dore, E., Gaud, C., Niault, M., Fernandes, E., Hitoto, H., Compagnucci, A., Elenga, N., Faye, A., Dollfus, C., Chace, A., Levine, M., Martha, S.A., Floch-Tudal, C., Kebaïli, K., Entz-Werle, N., Tricoire, J., Mazingue, F., Bolot, P., Brazille, P., Goetghebuer, T., Gennotte, A.F., Van Der Linden, D., Schmitz, V., Moutschen, M., Crenn-Hebert, C., Habibi, F., Coursol, A., Guesdon, E., Ceccaldi, P.F., Dehlinger – Paul, M., Pannier, E., Marcou, V., Elleau, C., Achkar, M., Vareil, M.O., Couderc, S., Routier, C., Bouldouyre, M.A., Selleret, L., Chabrol, A., Bellahcene, C., Pluchart, C., Yangui, A., Vignes, D., Alissa, A., Johnson, A., Lachassinne, E., Benbara, A., Karaoui, L., Bongain, A., Yakeu, B., Schmit, J.L., Cravello, L., Hubert, C., Faucher, P., Pinquier, D., Borie, C., Rocchi, D., Brunet-Cartier, C., Briandet, C., Brouard, J., Chalvon-Demersay, A., Rajguru, M., Billiemaz, K., Fresard, A., Moulin, A., Fialaire, P., Mesnard, L., Werner, E., Vintejoux, E., Marian, J., Ranaivojaona, S., Bissuel, F., Abdelhadi, M., Hammou, Y., Genet-Villeger, C., Hatchuel, Y., Bachelard, G., Medus, M., Dendale – Nguyen, J., Guimard, T.S., Martha, A., Rouha, M., Perfezou, P., De Saint Martin, L., Jaffuel, S., Buzele, R., Gousseff, M., Cudeville, C., Vitrat, V., Michau, C., Palenzuela, G., Driessen, M., Heller-Roussin, B., Labaune, J.M., Muanza, B., Massardier, J., Partisani, M., Hau, I., Runel-Belliard, C., Brehin, C., Kebaili, K., Lalande, M., Lagree, M., Lacombe, K., Molina, J.-M., Reynes, J., Robineau, O., Raffi, F., Becker, A., Weiss, L., Allègre, T., Pialoux, G., Souala, F., Rami, A., Katlama, C., Cabié, A., Viard, J.-P., Bastides, F., Michel, C., Salmon, D., Lièvre, J-D Le, Sotto, A., Rouveix, E., Naqvi, A., Brégigeon, S., Rodet, R., Simon-Coutelier, A., Esnault, J.-L., Buzelé, R., Stein, A., Godin-Colet, C., Pichancourt, G., Caraux-Paz, P., Zadeh, M Mohseni, Gérard, L., Lascaux-Cametz, C., Bodard, L., Pellegrin, J.-L., Ettahar, N., Uludag, A., Rosenthal, E., Prevoteau du Clary, F., Jaureguiberry, S., Philibert, P., Lecapitaine, A.-L., Chakvetadze, E., Champagne, H., Daneluzzi, V., Goupil de Bouillé, J., Leprêtre, A., Lamaury, I., Darasteanu, I., Abraham, B., Garipuy, D., Berger, J.-L., Schmit, J.-L., Diallo, K., Gourdon, F., Vaillant, O., Gaborieau, V., Doll, J., Quinsat, D., Geffray, L., Girard, J.-J., Houlbert, D., Perronne, V., Klement, E., Antioniotti, O., Rouzioux, C., Avettand-Fenoel, V., Lortholary, O., Boucly, S., Maignan, A., Thiebaut, R., Meyer, L., Boufassa, F., Charles, M.A., Dray-Spira, R., Legeai, C., Amon, V., Benammar, N., Seng, R., Slama, L., Bonnard, P., Chakvetadze, C., L’Yavanc, T., Capeau, J., Vigouroux, C., Fellahi, S., Bastard, J.P., Oksenhendler, E., Bourge, J.F., Bajzik, V., Sereni, D., Lascoux-Combe, C., Taulera, O., Dien, L.V., Delgado, J., Molina, J.M., Saint-Marc, T., Ferret, S., Pavie, J., Bergmann, J.F., Parrinello, M., BLefebvre, Boudraa, C., Diallo, B., Lupin, C., Herson, S., Simon, A., Edeb, N., Guillevin, L., Tahi, T., Pietri, M.P., Tisne-Dessus, D., Jalbert, C., Yeni, P., Matheron, S., Pahlavan, G., Phung, B., El-Alami Talbi, N., Ramani, Z., Catalano, G., Godard, C., Boue, F., Chambrin, V., Bornarel, D., Schoen, H., Carlier, R., Fantin, B., Poder, C., Dhote, R., Bentata, M., Honore, P., Tuyet, Xuan, Delfraissy, J.F., Chaix, F., Rannou, M.T., Levy, Y., Sobel, A., Dumont, C., Abel, S., Pierre-François, S., Beaujolais, V., Poizot-Martin, I., Zaegel-Faucher, O., Debreux, C., Moreau, J., Van Der Gheynst, E., Thiebaut-Drobacheff, M.C., Foltzer, A., Hoen, B., Faucher, J.F., Gil, H., Ragnaud, J.M., Raymond, I., Louis, I., Hessamfar, M., Baillat, V., De Boever, C Merle, Tramoni, C., Soufflet, A., Guadagnin, P., Choutet, P., Mounoury, O., Brosseau, D., Hue, H., May, T., Wassoumbou, S., Stenzel, M., Bouillon, M.P., Yazdanpanah, Y., Huleux, T., Aissi, E., Pavel, S., Rey, D., Fischer, P., Blaison, G., Martinot, M., Pachart, A., Jeanblanc, F., Touraine, J.L., Trepo, C., Miailhes, P., Kouadjo, K., Thoirain, V., Brochier, C., Perre, P., Leautez, S., Esnault, J.L., Suaud, I., Seng, Rémonie, Frange, Pierre, Faye, Albert, Dollfus, Catherine, le Chenadec, Jérôme, Boufassa, Faroudy, Essat, Asma, Goetghebuer, Tessa, Arezes, Elisa, Avettand-Fènoël, Véronique, Bigna, Jean-Joël, Blanche, Stéphane, Goujard, Cécile, Meyer, Laurence, Warszawski, Josiane, and Viard, Jean-Paul

Published
2024
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4. Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins)

Author

Mosbah, H., Donadille, B., Vatier, C., Janmaat, S., Atlan, M., Badens, C., Barat, P., Béliard, S., Beltrand, J., Ben Yaou, R., Bismuth, E., Boccara, F., Cariou, B., Chaouat, M., Charriot, G., Christin-Maitre, S., De Kerdanet, M., Delemer, B., Disse, E., Dubois, N., Eymard, B., Fève, B., Lascols, O., Mathurin, P., Nobécourt, E., Poujol-Robert, A., Prevost, G., Richard, P., Sellam, J., Tauveron, I., Treboz, D., Vergès, B., Vermot-Desroches, V., Wahbi, K., Jéru, I., Vantyghem, M. C., and Vigouroux, C.

Published
2022
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5. Ubiquitous atmospheric production of organic acids mediated by cloud droplets

Author

Franco, B., Blumenstock, T., Cho, C., Clarisse, L., Clerbaux, C., Coheur, P.-F., De Mazière, M., De Smedt, I., Dorn, H.-P., Emmerichs, T., Fuchs, H., Gkatzelis, G., Griffith, D. W. T., Gromov, S., Hannigan, J. W., Hase, F., Hohaus, T., Jones, N., Kerkweg, A., Kiendler-Scharr, A., Lutsch, E., Mahieu, E., Novelli, A., Ortega, I., Paton-Walsh, C., Pommier, M., Pozzer, A., Reimer, D., Rosanka, S., Sander, R., Schneider, M., Strong, K., Tillmann, R., Van Roozendael, M., Vereecken, L., Vigouroux, C., Wahner, A., and Taraborrelli, D.

Published
2021
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8. Parcours diagnostique de 109 patients avec syndrome lipodystrophique d’origine génétique

Author

Mosbah, H., primary, Vatier, C., additional, Andriss, B., additional, Belalem, I., additional, Delemer, B., additional, Duconget, L., additional, Janmaat-Salim, S., additional, Le Collen, L., additional, Leye, F., additional, Maiter, D., additional, Nobécourt, E., additional, Vantyghem, M.C., additional, Vigouroux, C., additional, and Dumas, A., additional

Published
2023
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9. VP429 Impaired skeletal muscle strength in adult patients with laminopathies

Author

Decostre, V., primary, Chikhaoui, C., additional, Vigouroux, C., additional, Behin, A., additional, Bassez, G., additional, Ferreiro, A., additional, Janmaat, S., additional, Masingue, M., additional, Stojkovic, T., additional, Vatier, C., additional, Quiles, R Villar, additional, Roy, S Quijano, additional, Wahbi, K., additional, Eymard, B., additional, Bonne, G., additional, Yaou, R Ben, additional, and Hogrel, J., additional

Published
2023
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10. Lipodystrophie et lipoatrophie

Author

Vatier, C., primary, Mosbah, H., additional, Zammouri, J., additional, Donadille, B., additional, Janmaat, S., additional, Lascols, O., additional, Fève, B., additional, Jéru, I., additional, and Vigouroux, C., additional

Published
2021
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15. First space-based derivation of the global atmospheric methanol emission fluxes

Author

Stavrakou, T, Guenther, A, Razavi, A, Clarisse, L, Clerbaux, C, Coheur, PF, Hurtmans, D, Karagulian, F, De MaziÃ̈re, M, Vigouroux, C, Amelynck, C, Schoon, N, Laffineur, Q, Heinesch, B, Aubinet, M, Rinsland, C, and Müller, JF

Subjects
Meteorology & Atmospheric Sciences, Atmospheric Sciences, Astronomical and Space Sciences
Abstract

This study provides improved methanol emission estimates on the global scale, in particular for the largest methanol source, the terrestrial biosphere, and for biomass burning. To this purpose, one complete year of spaceborne measurements of tropospheric methanol columns retrieved for the first time by the thermal infrared sensor IASI aboard the MetOp satellite are compared with distributions calculated by the IMAGESv2 global chemistry-transport model. Two model simulations are performed using a priori biogenic methanol emissions either from the new MEGANv2.1 emission model, which is fully described in this work and is based on net ecosystem flux measurements, or from a previous parameterization based on net primary production by Jacob et al. (2005). A significantly better model performance in terms of both amplitude and seasonality is achieved through the use of MEGANv2.1 in most world regions, with respect to IASI data, and to surface- and air-based methanol measurements, even though important discrepancies over several regions are still present. As a second step of this study, we combine the MEGANv2.1 and the IASI column abundances over continents in an inverse modelling scheme based on the adjoint of the IMAGESv2 model to generate an improved global methanol emission source. The global optimized source totals 187 Tg yr−1 with a contribution of 100 Tg yr−1 from plants, only slightly lower than the a priori MEGANv2.1 value of 105 Tg yr−1. Large decreases with respect to the MEGANv2.1 biogenic source are inferred over Amazonia (up to 55 %) and Indonesia (up to 58 %), whereas more moderate reductions are recorded in the Eastern US (20-25 %) and Central Africa (25-35 %). On the other hand, the biogenic source is found to strongly increase in the arid and semi-arid regions of Central Asia (up to a factor of 5) and Western US (factor of 2), probably due to a source of methanol specific to these ecosystems which is unaccounted for in the MEGANv2.1 inventory. The most significant error reductions achieved by the optimization concern the derived biogenic emissions over the Amazon and over the Former Soviet Union. The robustness of the derived fluxes to changes in convective updraft fluxes, in methanol removal processes, and in the choice of the biogenic a priori inventory is assessed through sensitivity inversions. Detailed comparisons of the model with a number of aircraft and surface observations of methanol, as well as new methanol measurements in Europe and in the Reunion Island show that the satellite-derived methanol emissions improve significantly the agreement with the independent data, giving thus credence to the IASI dataset. © 2011 Author(s).

Published
2011

16. Validation of OMPS Suomi NPP and OMPS NOAA‐20 Formaldehyde Total Columns With NDACC FTIR Observations

Author

Kwon, H.‐A., primary, Abad, G. González, additional, Nowlan, C. R., additional, Chong, H., additional, Souri, A. H., additional, Vigouroux, C., additional, Röhling, A., additional, Kivi, R., additional, Makarova, M., additional, Notholt, J., additional, Palm, M., additional, Winkler, H., additional, Té, Y., additional, Sussmann, R., additional, Rettinger, M., additional, Mahieu, E., additional, Strong, K., additional, Lutsch, E., additional, Yamanouchi, S., additional, Nagahama, T., additional, Hannigan, J. W., additional, Zhou, M., additional, Murata, I., additional, Grutter, M., additional, Stremme, W., additional, De Mazière, M., additional, Jones, N., additional, Smale, D., additional, and Morino, I., additional

Published
2023
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17. Treatabolome DB: linking gene and variants with treatments for rare diseases

Author

Corvó, A., Matalonga, L., Hernandez-Ferrer, C., Thompson, R., Carmody, L., Piscia, D., Macaya, A., Lochmuller, A., Manta, A., Fontaine, B., Vicart, S., de Sandre-Giovannoli, Annachiara, Desaphy, J., Altamura, C., Wahbi, K., Vigouroux, C., Zurek, B., Rheinard, C., Andrés, D. Gómez, Schon, K., Over, L., Brüggemann, N., Lohmann, K., Jennings, M. J., Synofzik, M., Riess, O., Yaou, R. Ben, Evangelista, T., Ratnaike, T., Bros-Facer, V., Gumus, G., Horvath, R., Chinnery, P., Graessner, H., Robinson, P., Atalaia, A., Lochmuller, H., Beltran, S., Bonne, Gisèle, Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de ressources biologiques Tissus ADN Cellules [Hôpital de la Timone - APHM] (CRB TAC), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), and Centro Nacional de Analisis Genomico [Barcelona] (CNAG)

Subjects
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Actionable genes
Abstract

International audience; Although next-generation sequencing (NGS) has drastically improved diagnosis for patients with rare diseases (RDs), access to knowledge of effective treatments is still sparse and often unclear. The large number of RDs (>7,000 estimated) and their genetic heterogeneity make the identification of existing treatments difficult for clinicians. To facilitate treatment visibility, Solve-RD has promoted the development of the Treatabolome DB, a database to facilitate the identification of putative treatments linked to the causative gene or genetic variant/s.A relational database maps genetic variants, or genes, to treatments according to the information collected through systematic literature reviews (SLRs) produced by disease experts. To date, 8 SLRs have been completed on congenital myasthenic syndromes, laminopathies, muscular channelopathies, mitochondrial disorders (Leigh syndromes), hereditary peripheral neuropathies, genetic forms of Parkinson's disease, and metabolic myopathies. Currently, the Treatabolome consists of a dataset of more than 180 different treatments addressing more than 1000 unique variants and 77 genes, that can be interrogated through a web portal by clinicians and researchers. Gene and variant associated treatments can be programmatically queried with the API. The RD-Connect GPAP already incorporates a connection with the Treatabolome by benefitting from the open API of the platform.

Published
2023

22. VP.70 OPALE: a patient registry for laminopathies and emerinopathies in France

Author

Yaou, R. Ben, primary, Anselme, F., additional, De Sande-Giovannoli, A., additional, Campanna-Salort, E., additional, Charron, P., additional, Chikhaoui, C., additional, Jeru, I., additional, Labombarda, F., additional, Leturcq, F., additional, Quijano-Roy, S., additional, Stalens, C., additional, Richard, P., additional, Vigouroux, C., additional, Bonne, G., additional, and Wahbi, K., additional

Published
2022
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24. OPALE: A patient registry for Laminopathies and Emerinopathies in France

Author

Yaou, R. Ben, Anselme, F., de Sande-Giovannoli, A., Campanna-Salort, E., Charron, P., Chikhaoui, C., Jeru, I., Labombarda, F., Leturcq, F., Quijano-Roy, S., Stalens, C., Richard, P., Vigouroux, C., Bonne, Gisèle, Wahbi, K., Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Endothélium, valvulopathies et insuffisance cardiaque (EnVI), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de ressources biologiques Tissus ADN Cellules [Hôpital de la Timone - APHM] (CRB TAC), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Maladies génétiques d'expression pédiatrique (U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université de Caen Normandie (UNICAEN), Normandie Université (NU), Service de biochimie et de génétique moléculaire [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Pédiatrie, Rééducation et Réanimation Neurorespiratoire, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Raymond Poincaré [AP-HP], Association française contre les myopathies (AFM-Téléthon), Etablissement Français du Sang [La Plaine Saint-Denis] (EFS), Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Saint-Antoine [AP-HP], Université Paris Descartes - Paris 5 (UPD5), Hôpital Cochin [AP-HP], Service de Pédiatrie, Hôpital Raymond Poincaré [AP-HP], and Belgian Institute for Space Aeronomy / Institut d'Aéronomie Spatiale de Belgique (BIRA-IASB)

Subjects
lamin A/C LMNA gene, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV]Life Sciences [q-bio], laminopathies, [SDV.MHEP.PHY]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract

International audience

Published
2022

25. Treatabolome database: current state and new developments towards enhancing rare disease treatment visibility

Author

Atalaia, A, Ferrer, C Hernandez, Corvó, A, Matalonga, L, Thompson, R, Carmody, L, Piscia, D, Macaya, A, Lochmuller, A, Manta, A, Fontaine, B, Vicart, S, Desaphy, JF, Altamura, C, Wahbi, K, de Sandre-Giovannoli, Annachiara, Vigouroux, C, Zurek, B, Rheinard, C, Andrés, D Gómez, Schon, K, Over, L, Brüggemann, N, Lohmann, K, Jennings, MJ, Synofzik, M, Riess, O, Yaou, R Ben, Evangelista, T, Ratnaike, T, Facer, V Bros, Gumus, G, Horvath, R, Chinnery, P, Laurie, S, Graessner, H, Robinson, P, Lochmuller, H, Beltran, S, Bonne, Gisèle, Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Max Planck Institute for Biogeochemistry (MPI-BGC), Max-Planck-Gesellschaft, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de ressources biologiques Tissus ADN Cellules [Hôpital de la Timone - APHM] (CRB TAC), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherche Saint-Antoine (CRSA), and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)

Subjects
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, rare diseases, Treatment delay
Abstract

International audience

Published
2022

27. Les mutations d’EPHX1 sont responsables de diabète lipoatrophique, consécutif à une altération de l’hydrolyse des époxydes et à une sénescence cellulaire accrue

Author

Gautheron, J., primary, Morisseau, C., additional, Chung, W., additional, Zammouri, J., additional, Auclair, M., additional, Baujat, G., additional, Capel, E., additional, Moulin, C., additional, Wang, Y., additional, Yang, J., additional, Hammock, B., additional, Cerame, B., additional, Phan, F., additional, Fève, B., additional, Vigouroux, C., additional, Andreelli, F., additional, and Jéru, I., additional

Published
2021
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28. Indications thérapeutiques et effets métaboliques de la métréleptine chez les patients atteints de lipodystrophie : données de vie réelle du registre français

Author

Mosbah, H., primary, Vantyghem, M.C., additional, Guilleux, A., additional, Andreelli, F., additional, Archambeaud, F., additional, Bismuth, E., additional, Briet, C., additional, Cartigny, M., additional, DaguenelNguyen, A., additional, Donadille, B., additional, Fichet, M., additional, Gautier, J.F., additional, Janmaat, S., additional, Jéru, I., additional, Legagneur, C., additional, Maitre, J., additional, Mongeois, E., additional, Nobécourt, E., additional, Poitou, C., additional, Renard, E., additional, Reznik, Y., additional, Spiteri, A., additional, Travert, F., additional, Vergès, B., additional, Zammouri, J., additional, Vigouroux, C., additional, and Vatier, C., additional

Published
2021
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30. Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management

Author

Avila, M., Dyment, D. A., Sagen, J. V., St-Onge, J., Moog, U., Chung, B. H.Y., Mo, S., Mansour, S., Albanese, A., Garcia, S., Martin, D. O., Lopez, A. A., Claudi, T., König, R., White, S. M., Sawyer, S. L., Bernstein, J. A., Slattery, L., Jobling, R. K., Yoon, G., Curry, C. J., Merrer, M. L., Luyer, B. L., Héron, D., Mathieu-Dramard, M., Bitoun, P., Odent, S., Amiel, J., Kuentz, P., Thevenon, J., Laville, M., Reznik, Y., Fagour, C., Nunes, M.-L., Delesalle, D., Manouvrier, S., Lascols, O., Huet, F., Binquet, C., Faivre, L., Rivière, J.-B., Vigouroux, C., Njlstad, P. R., Innes, A. M., and Thauvin-Robinet, C.

Published
2016
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31. Treatabolome database: towards enhancing Rare Diseases’ treatment visibility

Author

Hernandez-Ferrer, C., Corvó, A., Matalonga, L., Thompson, R., Carmody, L., Piscia, D., Macaya, A., Lochmuller, A., Manta, A., Fontaine, B., Vicart, S., Desaphy, J., Altamura, C., Wahbi, K., Sandre-Giovannoli, A., Vigouroux, C., Zurek, B., Rheinard, C., Gómez- Andrés, D., Schon, K., Over, L., Brüggemann, N., Lohmann, K., Jennings, M. J., Synofzik, M., Riess, O., Ben Yaou, R., Evangelista, T., Ratnaike, T., Bros-Facer, V., Gumus, G., Horvath, R., Chinnery, P., Graessner, H., Robinson, P., Atalaia, A., Lochmuller, H., Beltran, S., Gisèle Bonne, NOAA Air Resources Laboratory (ARL), National Oceanic and Atmospheric Administration (NOAA), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), and CHU Saint-Antoine [AP-HP]

Subjects
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, rare diseases, Treatment delay
Abstract

International audience

Published
2021

39. Conséquences des variants pathogènes de PPARG responsables de lipodystrophie familiale partielle de type 3 (FPLD3) sur le déroulement de la grossesse et le développement in utero

Author

Gosseaume, C., primary, Fournier, T., additional, Jeru, I., additional, Missotte, I., additional, Pienkowski, C., additional, Guerci, B., additional, Nobecourt, E., additional, Debussche, X., additional, Archambeaud, F., additional, Thissen, J.P., additional, Lascols, O., additional, Degrelle, S., additional, Vigouroux, C., additional, and Vatier, C., additional

Published
2020
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41. Facteurs de risques associés à la prise de poids sous traitement antirétroviral chez des patients vivant avec le VIH : étude de marqueurs socio-cliniques, inflammatoires et métaboliques

Author

Goupil de Bouillé, J., primary, Ghislain, M., additional, Teglas, J., additional, Boufassa, F., additional, Vigouroux, C., additional, Goujard, C., additional, Bouchaud, O., additional, Salmon, D., additional, Meyer, L., additional, and Abgrall, S., additional

Published
2020
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43. Spaceborne Measurements of Formic and Acetic Acids: A Global View of the Regional Sources

Author

Franco, B., primary, Clarisse, L., additional, Stavrakou, T., additional, Müller, J.‐F., additional, Taraborrelli, D., additional, Hadji‐Lazaro, J., additional, Hannigan, J. W., additional, Hase, F., additional, Hurtmans, D., additional, Jones, N., additional, Lutsch, E., additional, Mahieu, E., additional, Ortega, I., additional, Schneider, M., additional, Strong, K., additional, Vigouroux, C., additional, Clerbaux, C., additional, and Coheur, P.‐F., additional

Published
2020
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45. 5164New risk prediction score for life-threatening ventricular tachyarrhythmias in laminopathies

Author

Wahbi, K, primary, Ben Yaou, R, additional, Gandjbakhch, E, additional, Anselme, F, additional, Gossios, T, additional, Lakdawala, N, additional, Stalens, C, additional, Sacher, F, additional, Babuty, D, additional, Charron, P, additional, Vigouroux, C, additional, Bonne, G, additional, Kumar, S, additional, Elliott, P, additional, and Duboc, D, additional

Published
2019
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48. Chapter 5: Time series and trend results

Author

Hassler, B., Damadeo, R., Chang, K-L., Sofieva, V. F., Tourpali, K., Frith, S. M., Ball, W. T., Degenstein, D. A., Godin-Beekmann, S., Hubert, D., Maillard-Barras, E., Misios, S., Petropavlovskikh, I., Roth, C. Z., Steinbrecht, W., Vigouroux, C., von Clarmann, T., Zawada, D. J., Zerefos, C. S., Alsing, J., Balis, D., Coldewey-Egbers, M., Eleftheratos, K., Gruzdev, A., Kapsomenakis, J., Laeng, A., Laine, M., Taylor, Michael, Weber, M., Wild, J. D., Petropavlovskikh, I., Godin-Beekmann, S., Hubert, D., Damadeo, R., Hassler, B., and Sofieva, V.

Abstract

The ultimate goal of LOTUS is to improve confidence in calculated ozone trend values via an improved understanding of the uncertainties. Chapter 3 highlighted many of the challenges facing analyses of long-term ozone time series, and despite the fact that many of those challenges still need to be addressed, it is worthwhile to assess the trend results from this work in such a way as to be able to place those in the context of previous work. This chapter highlights the results of taking the "LOTUS regression" model from Chapter 4 and applying it to the different data sets (i.e., satellite, ground, and model) at different resolutions comparable to those in previous ozone assessments and comprehensive studies (e.g., WMO, 2014; Harris et al., 2015; Steinbrecht et al., 2017). The individual satellite-based trend results are then combined to obtain a single mean ozone trend profile with respective uncertainty estimates. This important yet challenging final step in the assessment has been the cause of debate in the community in recent years. Different methods for combining the individual trend results are discussed and explained, and the final trend profile estimates are analysed for significance.

Published
2019

49. Acquired Generalized Lipodystrophy: A New Cause of Anti-PD-1 Immune-Related Diabetes

Author

Jehl, A., Cugnet-Anceau, C., Vigouroux, C., Legeay, A. L., Dalle, S., Harou, O., Marchand, L., LASCOLS, O., Caussy, C., Thivolet, C., Laville, M., Disse, E., Dynamique terrestre et planétaire (DTP), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut national des sciences de l'Univers (INSU - CNRS)-Observatoire Midi-Pyrénées (OMP), Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS), Belgian Institute for Space Aeronomy / Institut d'Aéronomie Spatiale de Belgique (BIRA-IASB), Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon, Centre de Recherche en Cancérologie de Lyon (CRCL), Université de Lyon-Université de Lyon-Centre Léon Bérard [Lyon]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire commun de biologie et génétique moléculaires [CHU Saint-Antoine], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Saint-Antoine [APHP], Centre de Recherche Saint-Antoine (CR Saint-Antoine), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP], Hôpital Louis Pradel [CHU - HCL], Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hospices Civils de Lyon (HCL), Météo France-Centre National d'Études Spatiales [Toulouse] (CNES)-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Météo France-Centre National d'Études Spatiales [Toulouse] (CNES)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Centre National de la Recherche Scientifique (CNRS), Centre de Recherche en Cancérologie de Lyon (UNICANCER/CRCL), Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Centre de Recherche Saint-Antoine (UMRS893), Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM), French Ministry of Solidarity and Health, and Assistance Publique-Hopitaux de Paris

Subjects
Diabetes Mellitus, Type 1, Nivolumab, Skin Neoplasms, Lipodystrophy, [SDV]Life Sciences [q-bio], Programmed Cell Death 1 Receptor, Humans, Antineoplastic Agents, Female, Middle Aged, Neoplasm Metastasis, Melanoma
Abstract

OBJECTIVE: Anti-programmed cell death-1 (anti-PD-1) antibodies have revolutionized advanced cancer therapy. Anti-PD-1 therapy is responsible for immune-related adverse events, with frequent endocrine manifestations, including acute-onset type 1 diabetes. Acquired generalized lipodystrophy (AGL) is a rare disease, believed to be immune mediated, characterized by loss of adipose tissue and insulin resistance-associated complications. RESEARCH DESIGN AND METHODS: We describe the first reported case of AGL induced by immune checkpoint therapy. RESULTS: A 62-year-old woman with metastatic melanoma treated with nivolumab was referred for major hyperglycemia, hypertriglyceridemia, and nonalcoholic steatohepatitis. She had presented with a rapidly progressive generalized loss of subcutaneous adipose tissue. Diabetes was associated with severe insulin resistance and undetectable plasma leptin. Subcutaneous biopsy revealed atrophic adipose tissue infiltrated with cytotoxic CD8(+) T lymphocytes and fibrosis. CONCLUSIONS: AGL is an additional immune-related adverse event of anti-PD-1 therapy that leads to severe insulin resistance-associated complications.

Published
2019

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